Allele-specific polymerase chain reaction for identifying carriers of Chediak-Higashi syndrome in Japanese Black cattle.
Chediak-Higashi syndrome (C-HS) of Japanese Black cattle is an inheritable disease with increased bleeding tendency and partial albinism. A nucleotide substitution in bovine LYST gene, which is likely to be a causative mutation of C-HS had previously been identified. A DNA diagnostic system by means of allele-specific PCR for detection of the nucleotide substitution was developed. Genomic DNA samples from 47 affected cattle, 9 carriers of C-HS and 49 phenotypically normal siblings of the affected cattle were used. 31 DNA samples from different populations of Japanese Black, Holstein and Japanese Brown cattle were used as controls. PCR amplification with the allele-specific primers gave a 78-bp band in affected cattle, while both 78- and 80-bp bands, and a 80-bp band were obtained from carriers and normal cattle respectively. It is concluded that detection of the nucleotide substitution of the LYST gene by allele-specific PCR is an effective DNA diagnostic system for identifying the carriers of C-HS.